Lacombe D - Search Results

1

Donnai-Barrow syndrome: four additional patients.

Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Among authors: lacombe d. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. Am J Med Genet A. 2003. PMID: 12923867 Review.

2

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Lacombe D, Saura R, Taine L, Battin J. Lacombe D, et al. Am J Med Genet. 1992 Sep 1;44(1):126-8. doi: 10.1002/ajmg.1320440134. Am J Med Genet. 1992. PMID: 1519642

3

New case of Toriello-Carey syndrome.

Lacombe D, Creusot G, Battin J. Lacombe D, et al. Am J Med Genet. 1992 Feb 1;42(3):374-6. doi: 10.1002/ajmg.1320420325. Am J Med Genet. 1992. PMID: 1536182

4

Townes-Brocks syndrome in an infant with translocation t (5;16).

Serville F, Lacombe D, Saura R, Billeaud C, Sergent MP. Serville F, et al. Among authors: lacombe d. Genet Couns. 1993;4(2):109-12. Genet Couns. 1993. PMID: 8357560

5

18p monosomy with midline defects and a de novo satellite identified by FISH.

Taine L, Goizet C, Wen ZQ, Chateil JF, Battin J, Saura R, Lacombe D. Taine L, et al. Among authors: lacombe d. Ann Genet. 1997;40(3):158-63. Ann Genet. 1997. PMID: 9401105

6

[Does germinal chromosomal mosaicism exist?].

Goizet C, Taine L, Wen ZQ, Horovitz J, Lacombe D, Saura R. Goizet C, et al. Among authors: lacombe d. J Gynecol Obstet Biol Reprod (Paris). 1997;26(3 Suppl):133-5. J Gynecol Obstet Biol Reprod (Paris). 1997. PMID: 9471442 French. No abstract available.

7

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.

Taine L, Coupry I, Boisseau P, Saura R, Lacombe D, Arveiler B. Taine L, et al. Among authors: lacombe d. Hum Genet. 1998 Feb;102(2):178-81. doi: 10.1007/s004390050673. Hum Genet. 1998. PMID: 9521585

8

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: lacombe d. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

9

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

Julia S, Pedespan JM, Boudard P, Barbier R, Gavilan-Cellie I, Chateil JF, Lacombe D. Julia S, et al. Among authors: lacombe d. Am J Med Genet. 2002 Jun 15;110(2):179-81. doi: 10.1002/ajmg.10433. Am J Med Genet. 2002. PMID: 12116258

10

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

Reboul MP, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A. Reboul MP, et al. Among authors: lacombe d. J Med Genet. 2002 Nov;39(11):e73. doi: 10.1136/jmg.39.11.e73. J Med Genet. 2002. PMID: 12414835 Free PMC article. No abstract available.

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